Canonical Allele Identifier: CA1590312493

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027542_149027543delinsAC , CM000667.2:g.149027542_149027543delinsAC	GRCh38
NC_000005.9:g.148407105_148407106delinsAC , CM000667.1:g.148407105_148407106delinsAC	GRCh37
NC_000005.8:g.148387298_148387299delinsAC	NCBI36
NG_007947.2:g.40632_40633delinsGT , LRG_269:g.40632_40633delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.2085_2086delinsGT
ENST00000515425.6:c.2189_2190delinsGT MANE Select	ENSP00000423660.1:p.Gly730=
ENST00000675793.1:c.*1473_*1474delinsGT	ENSP00000502039.1:n.*1473_*1474delinsGT
ENST00000676056.1:c.*1699_*1700delinsGT	ENSP00000501827.1:n.*1699_*1700delinsGT
ENST00000323829.9:c.*1577_*1578delinsGT	ENSP00000313025.5:n.*1577_*1578delinsGT
ENST00000504517.5:c.1719_1720delinsGT	ENSP00000421779.1:n.1719_1720delinsGT
ENST00000504690.5:c.2189_2190delinsGT	ENSP00000425627.1:p.Gly730=
ENST00000510779.1:c.1239_1240delinsGT
ENST00000511307.5:c.*1969_*1970delinsGT	ENSP00000421420.1:n.*1969_*1970delinsGT
ENST00000512049.5:c.2168_2169delinsGT	ENSP00000421860.1:p.Gly723=
ENST00000513604.5:c.*1577_*1578delinsGT	ENSP00000423111.1:n.*1577_*1578delinsGT
ENST00000515425.5:c.2189_2190delinsGT	ENSP00000423660.1:p.Gly730=
NM_024577.3:c.2189_2190delinsGT , LRG_269t1:c.2189_2190delinsGT	NP_078853.2:p.Gly730=
NM_024577.4:c.2189_2190delinsGT MANE Select	NP_078853.2:p.Gly730=